Rare and Orphan Designations

Rare Diseases

The National Institutes of Health (NIH) defines a "rare" disease as one that affects fewer than 200,000 people in the US. That is .0625% of the total population - about 1/20th of 1 percent.

Is autoimmune disease rare? There are over 140 autoimmune diseases, and although many of them are rare, the number of people with at least one of these diseases is at least 15 million - which is 5% of the US population. There are many forms of cancer, and many are rare, but nobody regards cancer as a rare disease. It is certainly not rare enough.

Does it matter if a disease is classified as "Rare"? ARI does not think so. It does not matter how rare a disease is if you are suffering from it. What matters is how many people are working on a cure. Money is necessary to support this work, and that money comes from government, industry, and private foundations. We believe more money will be dedicated to curing autoimmune disease if people realize that a cure for one of these diseases could become a cure for many others.

Orphan Diseases and Orphan Drugs

The term "orphan" disease is sometimes just used as a synonym for "rare" disease, but more precisely it is a disease that receives less attention than it deserves. By that standard, many autoimmune diseases are orphan diseases.

An orphan drug is a specific term that the US Food and Drug Administration (FDA) uses to designate drugs developed under the Orphan Drug Act and overseen by the Office of Orphan Products Development (OOPD). OOPD provides tax benefits to companies that develop drugs for rare diseases (as defined above). Not all treatments for orphan diseases are orphan drugs - if the drug can treat more common diseases, it does not receive the tax benefit for sales of the drug into that common disease market. There is concern among doctors that some drug companies are using the Orphan Drug designation to obtain tax benefits without providing any help to people suffering from rare diseases.

ARI: Autoimmune disease is not rare

ARI believes that autoimmune diseases should be viewed as a class of disease. We also believe that treatments that work on the underlying autoimmune condition will work on many diseases, and may prevent the development of a second or third autoimmune disease in an individual suffering from one of these diseases.

Should we regard autoimmune disease as an orphan disease? While we believe autoimmune disease does not get the attention it deserves, as we said at the beginning of this article: we do not believe that it matters. If you are the person suffering, all that matters is who is working on a cure.

ARI believes that autoimmune disease is common, that many people suffer from one of the many autoimmune diseases, and that a cure for one could be a cure for many. For an example of how that worked for the cancer community, see our story about Judah Folkman.